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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia
A Serra1, K Eirich, A K Winkler
1Department of Pediatric Surgery, Ulm University, Ulm, Jena, Germany.
Molecular Syndromology
|November 1, 2012
Summary
This study details a rare case of simultaneous Wilms tumor and neuroblastoma in an infant with Fanconi anemia and VACTER-L association. Genomic instability in precursor cells likely caused shared copy number variations leading to these distinct embryonal tumors.
Area of Science:
- Genetics
- Pediatric Oncology
- Genomic Instability
Background:
- Concurrent Wilms tumor (WT) and neuroblastoma (NB) are rare, often linked to Fanconi anemia (FA) with VACTER-L association (VL).
- Genomic instability may drive shared genetic alterations in precursor cells, leading to multiple embryonal tumors.
Purpose of the Study:
- Investigate the genetic underpinnings of simultaneous WT and NB in a patient with FA and VL.
- Explore the role of genomic instability and shared copy number variations in the development of these distinct tumors.
Main Methods:
- Clinical case study of a newborn with FA and VL.
- Genetic analysis including mutation detection in PALB2 and array comparative genomic hybridization (aCGH).
- Cytogenetic analysis of lymphocytes, bone marrow, and fibroblasts to assess chromosomal instability.
Main Results:
- A novel homozygous PALB2 frameshift mutation identified as the genetic cause of FA-N.
- Simultaneous diagnosis of epithelial-type WT and adrenal NB.
- Shared copy number gains in chromosomal regions 11p15.5 and 17q21.31-q25.3 in both tumors.
- Evidence of chromosomal instability and myelodysplastic syndrome in bone marrow cells.
Conclusions:
- Germline PALB2 mutation and subsequent genomic instability contribute to the rare concurrent development of WT and NB.
- Shared chromosomal regions with copy number variations in precursor cells may underlie the simultaneous occurrence of distinct embryonal tumors.
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